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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

The objective of this paper is to study the efficacy of the ASPECTSS Design Index's concepts as drivers of design intervention for educational environments for students on the autism spectrum. Based on the seven principles of acoustics, spatial sequencing, escape spaces, compartmentalization, transitions, sensory zoning and safety, ASPECTSS formed the basis for a preliminary post-occupancy evaluation (POE) and survey of an existing school environment.

Concepts drawn from the review of other strategies for autism spectrum disorder (ASD) friendly design were integrated with the seven ASPECTSS principles to create a design framework and consequent design retro-fit for a Pre-K-12th grade public school for students on the autism spectrum. The following design interventions were proposed: colour-coding based navigation; acoustical treatments in key circulation spaces; introduction of transition alcoves; classroom reorganisation using compartmentalization principles and the introduction of escape spaces for de-escalation. Specifically, a classroom template of modules of ASPECTSS-compliant layouts was provided to all staff. The efficacy and impact of these interventions were assessed using a whole campus online staff survey with further probing using classroom observations and subsequent interviews.

The results show alignment between the implementation of the ASPECTSS informed design interventions and responses to nine of the Likert scale items were all significantly lower than the middle response, indicating a high degree of satisfaction from survey respondents. These questions and responses related to the colour scheme facilitating ease of navigation for visitors of the school, the acoustics of the building successfully mitigating sound magnification and subsequently student distractibility, the organisation of the classrooms enhancing learning and the de-escalation zones allowing improved management of disruptive behaviours in the classroom.

This study focuses primarily on the Autism ASPECTSS Design Index as a framework for assessing classroom efficacy. Other tools and frameworks may produce different insights. A single school site was studied. Validation of these findings in other school environments is necessary before generalising these strategies at scale. The use of qualitative tools, primarily teacher and staff surveys, provides one lens into the efficacy of these design strategies. Further research using measurable biometric indicators such as heart-rate and stress levels measured through wearable technology could provide a first step towards the triangulation of these findings.

These findings could help provide more standardised best practices for designing learning environments for autism, potentially providing supportive strategies with real impact on learning quality, skill development and knowledge acquisition in school environments. This could potentially have economic implications by supporting more efficient progress for autistic students through their school curriculum.

Similar to economic impact, if validated and generalised, these findings could help with sense of accomplishment, general mental health improvement, alleviation of family stress and potential reduction of stigma in the autism community.

There is a slowly emerging field of design guidance for autism schools, but very little empirical evidence on the measurable efficacy of these strategies. This research provides one type of such evidence, as measured by the perceived impact from the point of view of staff and teachers at the school.

Patients with autism spectrum disorder (ASD) present with specific assessment, specific difficulties, needs and therapeutic issues and therefore are a challenging group for forensic services. Given the challenge that individuals with ASD present to forensic services, the suggested increase in the number of this group within this setting and the relatively little amount of research which suggests they face a number of difficulties within the prison environment, the purpose of this paper is to identify and review all the studies which have been carried out investigating any aspect of ASD in relation to secure hospital settings.

Seven internet-based bibliographic databases were used for the present review. The review followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines.

A total of 12 studies were included in this review; 3 looked at the prevalence of ASD in secure psychiatric hospitals. One study evaluated the clinical utility of the AQ screening tool to assess self-reported autistic traits in secure psychiatric settings. Three explored any type of characteristics of patients with ASD detained in secure psychiatric hospitals. One study investigated the experiences or quality of life of patients with an ASD detained in secure psychiatric care. Two studies investigated awareness, knowledge and/or views regarding patients with ASD held by staff working within secure psychiatric hospitals. Lastly, three studies (one of which was also included in the prevalence category above) looked at the effectiveness of interventions or treatment of patients with ASD in secure psychiatric hospitals. Clinical recommendations and future research directions are discussed.

To the author’s knowledge, this is the first review to explore what research has been carried out looking specifically at patients with ASD in relation to secure forensic settings.

This article examines the opportunities to create optimal conditions for individuals with autism, to work successfully within the contemporary workplace and improve their well-being. These opportunities arise from digital technology (DT) development, enabling the work environment to be remodeled by providing new possibilities and ways of working. The author discusses both technology-based as well as non-technological accommodations supporting overcoming the workplace challenges faced by employees with autism.

A qualitative research was conducted with the use of in-depth interviews with 21 individuals with expertise in the field.

Possible technology-based work environment modifications and non-technological managerial practices facilitating work integration and the long-term well-being of individuals with autism were proposed. These solutions address four main problems: (1) effective communication; (2) time management, task prioritizing, and organization of work; (3) stress management and emotion control; and (4) sensory sensitivity.

Proposed solutions include primarily the wide usage of electronic mediated forms of communicating based on non-direct and non-verbal contact; a flexible approach towards work organization; accurate stress monitoring systems; and an individualized approach toward office space arrangements limiting external stimuli.

All this could lead not only to an increase in employment in individuals on the autism spectrum but also influence the improvement of the job performance of already employed. Modifications introduced could improve the long-term well-being of all employees, both with autism and neurotypical ones.

Research into the neurobiological origins of same-sex attraction is inconclusive. A recent theory of homosexuality posited that maternal thyroid dysfunction during pregnancy is associated with an increased rate of homosexual orientation in offspring. Relevant studies from the prenatal thyroid model perspective were reviewed, the major findings of which are as follows: i) An increased prevalence of Hashimoto's disease in lesbian women suggests a maternal and even familial presence of the same autoimmune thyroid disease. Female-to-male transsexuals and lesbian women were also reported to have higher rates of polycystic ovary syndrome (PCOS). Over the last several years, reports suggesting a strong link between PCOS and thyroid autoimmunity have accumulated. ii) The increased risk of autism spectrum disorders (ASD) in the offspring of mothers with thyroid autoimmunity in pregnancy and the association between ASD and gender dysphoria indicate a link between maternal thyroid dysfunction and gender dysphoria/same-sex attraction in the off-spring. iii) The high risk of miscarriage and retarded fetal growth in pregnancies of mothers who give birth to homosexual off-spring can be explained by the impact of maternal thyroid dysfunction during pregnancy. This perspective review highlights relevant research findings and integrates them into the prenatal thyroid model of homosexuality. A better understanding of the mechanisms involved in the generation of same-sex orientation will contribute to the betterment of individual lives, as well as of society.

The assessment of Autism Spectrum Disorders (ASD) in childhood has two essential aspects: the identification of the risk (under 30 months of age) and the definition of a diagnosis that takes into account its core areas as well as further non-specific aspects. The purpose of this paper is to present an approach that considers the combination of clinical evaluation with the use of tools that analyse the various levels of the child’s functioning as fundamental.

The comprehensive assessment at the Institute of Ortofonologia in Rome provides the ADOS-2 and the Leiter-R for the evaluation of the symptomatology, the severity level, the non-verbal cognitive functioning and the fluid reasoning; the TCE and the UOI are used to identify, respectively, the child’s emotional skills and the ability to understand the intentions of others, as precursors of the theory of mind. Within this assessment, the Brief-P, the Short Sensory Profile and the RBS are also included for the evaluation of executive functions, sensory pattern and of restricted and repetitive behaviours, as observed by parents.

How to define a reliable development profile, which allows to plan a specific intervention calibrated on the potential of the child and on his development trajectory, is described. Two clinical cases are also presented.

The entire process is aimed both at a detailed assessment of the child’s functioning and at identifying a specific therapeutic project and predictive factors for achieving an optimal outcome.

Various studies have examined the role of executive functions in autism, but there is a lack of research in the current literature on cognitive flexibility in autism spectrum disorders (ASD). The purpose of this study is to investigate whether cognitive flexibility deficits could be related to facial emotion recognition deficits in ASD.

In total, 20 children with ASD and 20 typically developing children, matched for intelligence quotient and gender, were examined both in facial emotion recognition tasks and in cognitive flexibility tasks through the dimensional change card sorting task.

Despite cognitive flexibility not being a core deficit in ASD, impaired cognitive flexibility is evident in the present research. Results show that cognitive flexibility is related to facial emotion recognition and support the hypothesis of an executive specific deficit in children with autism.

One of the limit is the use of just one cognitive test to measure cognitive flexibility and facial recognition. This could be important to be taken into account in the new research. By increasing the number of common variables assessing cognitive flexibility, this will allow for a better comparison between studies to characterize impairment in cognitive flexibility in ASD.

Investigating impairment in cognitive flexibility may help to plan training intervention based on the induction of flexibility.

If the authors implement cognitive flexibility people with ASD can have also an effect on their social behavior and overcome the typical and repetitive behaviors that are the hallmark of ASD.

The originality is to relate cognitive flexibility deficits to facial emotion.

Even though 95% of children with neurodevelopmental disorders, including autism spectrum disorder (ASD), live in low- and middle-income countries, there is a dearth of studies from these countries, including the Republic of Georgia. Several ASD screening tools are available, but few are validated for use in Georgian or other smaller countries. This study aims to adapt and validate the autism spectrum screening questionnaire (ASSQ) for use in Georgia.

The ASSQ was administered for all third-grade students in 402 schools in the five main Georgian cities, n = 27,336. Prior to use, the 27-item ASSQ was translated, back-translated and adapted for use in Georgia. A total of 16,556 students (approximately 61%) were assessed by a parent and/or teacher. Optimal cutoff scores were estimated. Randomly chosen children who screened positive (n = 173) and negative (n = 127) were offered comprehensive assessment using standardized diagnostic procedures.

Data from 15,510 parents- and 13,517 teachers-administered ASSQ revealed statistically significant differences in median and cutoff scores between parents and teachers: 7 versus 4 and 9 versus 6, respectively. Cutoff score = 14, on either parent or teacher ASSQ, had sensitivity of 0.94, indicating that it can be used in school settings.

The Georgian adaptation of the ASSQ creates opportunity for further ASD research, while also providing a valid screening tool for clinicians. Data from Georgia will add to the growing understanding of the broader ASD phenotype.

The aim of this paper is to share the details of a multidisciplinary approach, which includes occupational therapy, and to review the factors that should be considered in the evaluation and treatment of children with autism spectrum disorders (ASD) who are excessively selective in their food choices. Issues in this area are complex and often related to several complementary domains (medical, nutritional, psychosocial, sensorimotor, etc.). However, feeding disorders are frequently assessed and treated from a single discipline and important issues are missed or confounded.

A team of experienced clinicians in the field of paediatric feeding disorders gathered the knowledge and experience they acquired from working with individuals with ASD as well as with individuals with other neurodevelopmental diagnosis. A review of current literature in paediatric feeding disorders was used to document and explicate the multifactorial nature of feeding disorders in children with ASD and justify the need for a multidisciplinary approach to issues in this area.

Feeding disorders in children with ASD are linked to multiple sensory, motor, behavioural, nutritional and gastrointestinal comorbidities. A multidisciplinary approach is needed and increasingly recommended. However, multidisciplinary teams, specialised in the care of children with ASD and feeding issues, continue to be difficult to locate and access for families. The authors sought to highlight the signs of feeding problems in children with ASD from different domains and share a model of a multidisciplinary approach that can lead to more successful interventions.

The detailed description of the domains linked to feeding issues and the clinical descriptions provided throughout the paper create a roadmap for other clinicians aiming to set up similar teams.

Kupferstein (2018) surveyed 460 respondents and found that 46 percent of respondents met the diagnostic threshold for posttraumatic stress disorder after exposure to applied-behavior-analysis-based intervention. The purpose of this paper is to provide an evaluation a critical analysis of Kupferstein (2018) including the experimental methods and discussion of the results.

The authors evaluated the Kupferstein’s methodological rigor with respect to the use of hypothesis testing, use of indirect measures, selection of respondents, ambiguity in definitions, measurement system, and framing of the experimental question when conducting the correlational analysis in addition to Kupferstein’s analysis and discussion of the results.

Based upon the analysis, Kupferstein’s results should be viewed with extreme caution due to several methodological and conceptual flaws including, but not limited to, leading questions used within a non-validated survey, failure to confirm diagnosis, and incomplete description of interventions.

It is the authors’ hope that this analysis provides caregivers, clinicians, and service providers with a scientific lens which will useful in viewing the limitations and methodological flaws of Kupferstein.